Canonical Allele Identifier: CA2580616997

Gene: DDX3X

Linked Data

• ClinVar Variation Id: 2572273
• ClinVar RCV Id: RCV003314158

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41345309del , CM000685.2:g.41345309del	GRCh38
NC_000023.10:g.41204562del , CM000685.1:g.41204562del	GRCh37
NC_000023.9:g.41089506del	NCBI36
NG_012830.1:g.16912del
NG_012830.2:g.16912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642322.2:c.1287del	ENSP00000496052.2:p.Pro430LeufsTer12
ENST00000399959.7:c.1152del	ENSP00000382840.3:p.Pro385LeufsTer12
ENST00000441189.4:c.1056del	ENSP00000414281.3:p.Pro353LeufsTer12
ENST00000457138.7:c.1107del	ENSP00000392494.2:p.Pro370LeufsTer12
ENST00000629496.3:c.1155del	ENSP00000487224.1:p.Pro386LeufsTer12
ENST00000642161.1:n.3354del
ENST00000642322.1:c.597del	ENSP00000496052.1:p.Pro200LeufsTer12
ENST00000642424.1:c.597del	ENSP00000496356.1:p.Pro200LeufsTer12
ENST00000642589.1:n.4477del
ENST00000642597.1:n.1329del
ENST00000642687.1:n.1188del
ENST00000642722.1:n.1988del
ENST00000642763.1:n.2046del
ENST00000642793.1:c.*604del	ENSP00000493976.1:n.*604del
ENST00000642801.1:n.804del
ENST00000643820.1:n.431del
ENST00000643963.1:c.*437del	ENSP00000495264.1:n.*437del
ENST00000644073.1:c.1113del	ENSP00000493475.1:p.Pro372LeufsTer12
ENST00000644074.1:c.1152del	ENSP00000496663.1:p.Pro385LeufsTer12
ENST00000644109.1:c.1317del	ENSP00000494952.1:p.Pro440LeufsTer12
ENST00000644307.1:n.1246del
ENST00000644513.1:c.1155del	ENSP00000493819.1:p.Pro386LeufsTer12
ENST00000644677.1:c.1038del	ENSP00000496524.1:p.Pro347LeufsTer12
ENST00000644876.2:c.1155del MANE Select	ENSP00000494040.1:p.Pro386LeufsTer12
ENST00000644958.1:n.2816del
ENST00000645080.1:c.*2377del	ENSP00000494767.1:n.*2377del
ENST00000645120.1:n.2650del
ENST00000645338.1:n.1246del
ENST00000645380.1:n.2540del
ENST00000645561.1:n.2331del
ENST00000645574.1:n.4019del
ENST00000645589.1:c.1155del	ENSP00000494588.1:p.Pro386LeufsTer12
ENST00000646093.1:n.339del
ENST00000646107.1:c.1038del	ENSP00000494518.1:p.Pro347LeufsTer12
ENST00000646122.1:c.1155del	ENSP00000496222.1:p.Pro386LeufsTer12
ENST00000646196.1:n.2124del
ENST00000646223.1:c.*1148del	ENSP00000496043.1:n.*1148del
ENST00000646319.1:c.1155del	ENSP00000495377.1:p.Pro386LeufsTer12
ENST00000646390.1:n.3443del
ENST00000646627.1:c.597del	ENSP00000493795.1:p.Pro200LeufsTer12
ENST00000646679.1:c.597del	ENSP00000494887.1:p.Pro200LeufsTer12
ENST00000646822.1:n.2217del
ENST00000646940.1:n.1329del
ENST00000647286.1:n.1253del
ENST00000399959.6:c.1155del	ENSP00000382840.2:p.Pro386LeufsTer12
ENST00000441189.3:c.341-2331del	ENSP00000414281.2:n.341-2331del
ENST00000457138.6:c.1107del	ENSP00000392494.2:p.Pro370LeufsTer12
ENST00000478993.5:c.1155del	ENSP00000478443.1:p.Pro386LeufsTer12
ENST00000542215.5:n.1203del
ENST00000625837.2:c.1155del	ENSP00000486306.1:p.Pro386LeufsTer12
ENST00000626301.2:c.1155del	ENSP00000486443.1:p.Pro386LeufsTer12
ENST00000629496.2:c.1155del	ENSP00000487224.1:p.Pro386LeufsTer12
ENST00000629785.2:c.1155del	ENSP00000486516.1:p.Pro386LeufsTer12
ENST00000630255.2:c.1155del	ENSP00000486720.1:p.Pro386LeufsTer12
ENST00000630370.2:c.1155del	ENSP00000487062.1:p.Pro386LeufsTer12
ENST00000630858.2:c.1155del	ENSP00000486514.1:p.Pro386LeufsTer12
NM_001193416.2:c.1155del	NP_001180345.1:p.Pro386LeufsTer12
NM_001193417.2:c.1107del	NP_001180346.1:p.Pro370LeufsTer12
NM_001356.4:c.1155del	NP_001347.3:p.Pro386LeufsTer12
NR_126093.1:n.2100del
XM_011543892.1:c.1155del	XP_011542194.1:p.Pro386LeufsTer12
NM_001363819.1:c.597del	NP_001350748.1:p.Pro200LeufsTer12
XM_011543892.2:c.1155del	XP_011542194.1:p.Pro386LeufsTer12
XM_017029313.1:c.597del	XP_016884802.1:p.Pro200LeufsTer12
NM_001193416.3:c.1155del	NP_001180345.1:p.Pro386LeufsTer12
NM_001193417.3:c.1107del	NP_001180346.1:p.Pro370LeufsTer12
NM_001356.5:c.1155del MANE Select	NP_001347.3:p.Pro386LeufsTer12